GATA2

GATA2
Identifiers
Aliases	GATA2, DCML, IMD21, MONOMAC, NFE1B, GATA binding protein 2
External IDs	OMIM: 137295; MGI: 95662; HomoloGene: 32030; GeneCards: GATA2; OMA:GATA2 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) Band 3q21.3 Start 128,479,427 bp End 128,493,201 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6 D1|6 39.2 cM Start 88,170,873 bp End 88,184,014 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in seminal vesicula right lung left uterine tube renal medulla prostate urethra canal of the cervix upper lobe of left lung placenta sperm Top expressed in seminal vesicula medullary collecting duct placenta vas deferens inner renal medulla uterus lung spermatid semi-lunar valve superior cervical ganglion More reference expression data BioGPS n/a
Gene ontology Molecular function RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific zinc ion binding transcription factor binding chromatin binding C2H2 zinc finger domain binding metal ion binding protein binding cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component transcription regulator complex nucleoplasm nucleus cytoplasm protein-containing complex Biological process commitment of neuronal cell to specific neuron type in forebrain positive regulation of phagocytosis cell differentiation negative regulation of fat cell differentiation pituitary gland development positive regulation of phagocytosis, engulfment regulation of transcription, DNA-templated positive regulation of erythrocyte differentiation somatic stem cell population maintenance negative regulation of macrophage differentiation GABAergic neuron differentiation positive regulation of cytosolic calcium ion concentration negative regulation of fat cell proliferation negative regulation of neural precursor cell proliferation embryonic placenta development neuron migration blood coagulation negative regulation of transcription by RNA polymerase II cell maturation semicircular canal development transcription, DNA-templated regulation of primitive erythrocyte differentiation ventral spinal cord interneuron differentiation response to lipid cell differentiation in hindbrain central nervous system neuron development inner ear morphogenesis positive regulation of neuron differentiation regulation of histone acetylation neuron differentiation regulation of forebrain neuron differentiation phagocytosis urogenital system development cell fate determination homeostasis of number of cells within a tissue definitive hemopoiesis neuron fate commitment negative regulation of myeloid cell differentiation positive regulation of megakaryocyte differentiation positive regulation of transcription by RNA polymerase II negative regulation of Notch signaling pathway eosinophil fate commitment positive regulation of mast cell degranulation cochlea development regulation of hematopoietic stem cell differentiation positive regulation of angiogenesis negative regulation of endothelial cell apoptotic process positive regulation of gene expression negative regulation of gene expression hemopoiesis pri-miRNA transcription by RNA polymerase II positive regulation of cell migration involved in sprouting angiogenesis positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis heart development animal organ morphogenesis tissue development cell development anatomical structure formation involved in morphogenesis positive regulation of pri-miRNA transcription by RNA polymerase II digestive tract development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2624 14461 Ensembl ENSG00000179348 ENSMUSG00000015053 UniProt P23769 O09100 RefSeq (mRNA) NM_032638 NM_001145661 NM_001145662 NM_008090 NM_001355253 RefSeq (protein) NP_001139133 NP_001139134 NP_116027 NP_032116 NP_001342182 Location (UCSC) Chr 3: 128.48 – 128.49 Mb Chr 6: 88.17 – 88.18 Mb PubMed search
Wikidata
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GATA2 is a human gene which makes a protein called GATA binding protein 2 - a transcription factor.

Function

The GATA family of transcription factors, which contain zinc fingers in their DNA binding domain, have emerged as candidate regulators of gene expression in hematopoietic cells. GATA1 is essential for normal primitive and definitive erythropoiesis and is expressed at high levels in erythroid cells, mast cells, and megakaryocytes. GATA2 is expressed in hematopoietic progenitors, including early erythroid cells, mast cells, and megakaryocytes, and also in nonhematopoietic embryonic stem cells. In chicken erythroid progenitors, forced expression of GATA2 promotes proliferation at the expense of differentiation. GATA3 expression is restricted to T-lymphocyte cells and some nonhematopoietic cell types, including embryonic stem cells.

Interactions

GATA2 has been shown to interact with:

• HDAC3,
• LMO2,
• POU1F1,
• PML
• SPI1, and
• ZBTB16.

Genetic disorders

Multiple mutations on GATA2 gene have been recently implicated as the cause of primary immunodeficiency in patients with MonoMAC Syndrome, and cases of dendritic cell, monocyte, B NK lymphoid deficiency and leukemia. Mutations in this gene have also been associated with familiar myelodysplastic syndrome/acute myeloid leukemia (MDS/AML) and lymphedema, deafness and myelodysplasia (Emberger syndrome).

Lung cancer

GATA2 has recently been implicated in non-small-cell lung cancer - specifically those tumours that are driven by a faulty Ras protein. Targeting processes that occur downstream of GATA2 signalling with clinically approved drugs had a significant effect in mouse models of the disease.

See also

• GATA transcription factor
• MonoMAC

Further reading

• Minegishi N (2002). "[Transcription factors regulating hematopoiesis: researches spanning from molecule to whole body]". Seikagaku. 74 (5): 398–402. PMID 12073612.
• Ohneda K, Yamamoto M (2003). "Roles of hematopoietic transcription factors GATA-1 and GATA-2 in the development of red blood cell lineage". Acta Haematol. 108 (4): 237–45. doi:10.1159/000065660. PMID 12432220.
• Dorfman DM, Wilson DB, Bruns GA, Orkin SH (1992). "Human transcription factor GATA-2. Evidence for regulation of preproendothelin-1 gene expression in endothelial cells". J. Biol. Chem. 267 (2): 1279–85. PMID 1370462.
• Page RL, Wharton JM, Wilkinson WE, Friedman IM, Claypool WD, Karim A, Kowalski KG, McDonald SJ, Gardiner P, Pritchett EL (1992). "Bidisomide (SC-40230), a new antiarrhythmic agent: initial study of tolerability and pharmacokinetics". Clin. Pharmacol. Ther. 51 (4): 371–8. doi:10.1038/clpt.1992.36. PMID 1563207.
• Lee ME, Temizer DH, Clifford JA, Quertermous T (1991). "Cloning of the GATA-binding protein that regulates endothelin-1 gene expression in endothelial cells". J. Biol. Chem. 266 (24): 16188–92. PMID 1714909.
• Zhang R, Min W, Sessa WC (1995). "Functional analysis of the human endothelial nitric oxide synthase promoter. Sp1 and GATA factors are necessary for basal transcription in endothelial cells". J. Biol. Chem. 270 (25): 15320–6. doi:10.1074/jbc.270.25.15320. PMID 7541039.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• Osada H, Grutz G, Axelson H, Forster A, Rabbitts TH (1995). "Association of erythroid transcription factors: complexes involving the LIM protein RBTN2 and the zinc-finger protein GATA1". Proc. Natl. Acad. Sci. U.S.A. 92 (21): 9585–9. doi:10.1073/pnas.92.21.9585. PMC 40846. PMID 7568177.
• Towatari M, May GE, Marais R, Perkins GR, Marshall CJ, Cowley S, Enver T (1995). "Regulation of GATA-2 phosphorylation by mitogen-activated protein kinase and interleukin-3". J. Biol. Chem. 270 (8): 4101–7. doi:10.1074/jbc.270.8.4101. PMID 7876160.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• Tsai FY, Keller G, Kuo FC, Weiss M, Chen J, Rosenblatt M, Alt FW, Orkin SH (1994). "An early haematopoietic defect in mice lacking the transcription factor GATA-2". Nature. 371 (6494): 221–6. doi:10.1038/371221a0. PMID 8078582.
• Briegel K, Lim KC, Plank C, Beug H, Engel JD, Zenke M (1993). "Ectopic expression of a conditional GATA-2/estrogen receptor chimera arrests erythroid differentiation in a hormone-dependent manner". Genes Dev. 7 (6): 1097–109. doi:10.1101/gad.7.6.1097. PMID 8504932.
• Towatari M, Kanei Y, Saito H, Hamaguchi M (1998). "Hematopoietic transcription factor GATA-2 activates transcription from HIV-1 long terminal repeat". AIDS. 12 (3): 253–9. doi:10.1097/00002030-199803000-00002. PMID 9517987.
• Dasen JS, O'Connell SM, Flynn SE, Treier M, Gleiberman AS, Szeto DP, Hooshmand F, Aggarwal AK, Rosenfeld MG (1999). "Reciprocal interactions of Pit1 and GATA2 mediate signaling gradient-induced determination of pituitary cell types". Cell. 97 (5): 587–98. doi:10.1016/S0092-8674(00)80770-9. PMID 10367888.
• Zhang P, Behre G, Pan J, Iwama A, Wara-Aswapati N, Radomska HS, Auron PE, Tenen DG, Sun Z (1999). "Negative cross-talk between hematopoietic regulators: GATA proteins repress PU.1". Proc. Natl. Acad. Sci. U.S.A. 96 (15): 8705–10. doi:10.1073/pnas.96.15.8705. PMC 17580. PMID 10411939.
• Wieser R, Volz A, Vinatzer U, Gardiner K, Jäger U, Mitterbauer M, Ziegler A, Fonatsch C (2000). "Transcription factor GATA-2 gene is located near 3q21 breakpoints in myeloid leukemia". Biochem. Biophys. Res. Commun. 273 (1): 239–45. doi:10.1006/bbrc.2000.2947. PMID 10873593.
• Tsuzuki S, Towatari M, Saito H, Enver T (2000). "Potentiation of GATA-2 Activity through Interactions with the Promyelocytic Leukemia Protein (PML) and the t(15;17)-Generated PML-Retinoic Acid Receptor α Oncoprotein". Mol. Cell. Biol. 20 (17): 6276–86. doi:10.1128/MCB.20.17.6276-6286.2000. PMC 86102. PMID 10938104.
• Yamashita K, Discher DJ, Hu J, Bishopric NH, Webster KA (2001). "Molecular regulation of the endothelin-1 gene by hypoxia. Contributions of hypoxia-inducible factor-1, activator protein-1, GATA-2, AND p300/CBP". J. Biol. Chem. 276 (16): 12645–53. doi:10.1074/jbc.M011344200. PMID 11278891.{{cite journal}}: CS1 maint: unflagged free DOI (link)
• Ozawa Y, Towatari M, Tsuzuki S, Hayakawa F, Maeda T, Miyata Y, Tanimoto M, Saito H (2001). "Histone deacetylase 3 associates with and represses the transcription factor GATA-2". Blood. 98 (7): 2116–23. doi:10.1182/blood.V98.7.2116. PMID 11567998.
• Zhang SB, He QY, Zhao H, Gui CY, Jiang C, Qian RL (2002). "Function of GATA transcription factors in hydroxyurea-induced HEL cells". Cell Res. 11 (4): 301–10. doi:10.1038/sj.cr.7290100. PMID 11787775.
• Tsuzuki S, Enver T (2002). "Interactions of GATA-2 with the promyelocytic leukemia zinc finger (PLZF) protein, its homologue FAZF, and the t(11;17)-generated PLZF-retinoic acid receptor alpha oncoprotein". Blood. 99 (9): 3404–10. doi:10.1182/blood.V99.9.3404. PMID 11964310.
• Hirasawa R, Shimizu R, Takahashi S, Osawa M, Takayanagi S, Kato Y, Onodera M, Minegishi N, Yamamoto M, Fukao K, Taniguchi H, Nakauchi H, Iwama A (2002). "Essential and Instructive Roles of GATA Factors in Eosinophil Development". J. Exp. Med. 195 (11): 1379–86. doi:10.1084/jem.20020170. PMC 2193540. PMID 12045236.

External links

• GATA2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• FactorBook GATA2

This article incorporates text from the United States National Library of Medicine, which is in the public domain.